L62V (p.Leu62Val) variant of BBS2 (BBSome complex member BBS2)
L62V (p.Leu62Val) in BBS2 (BBSome complex member BBS2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Bardet-Biedl syndrome; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
L62V (p.Leu62Val) variant details
- p.Leu62Val
- rs201860939
- ClinGen CA8066100
- ClinVar RCV001060812
- ClinVar RCV001832544
- Uncertain significance
- not specified; Bardet-Biedl syndrome; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.21
- CADD 16.10
- PolyPhen-2 0.02
- SIFT 0.61
- ClinVar: Uncertain significance (not specified; Bardet-Biedl syndrome; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Cited in: Bardet-Biedl Syndrome Overview. (PMID 20301537)
- Cited in: Pediatric Obesity-Assessment, Treatment, and Prevention: An Endocrine Society Clinical Practice Guideline. (PMID 28359099)